Skip to main content
Log in

Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. Van der Ploeg AT, Reuser AJ (2008) Pompe’s disease. Lancet 372:1342–1353

    Article  PubMed  Google Scholar 

  2. Laforêt P, Petiot P, Nicolino M et al (2008) Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 70:2063–2066

    Article  PubMed  Google Scholar 

  3. Sacconi S, Bocquet JD, Chanalet S et al (2010) Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol 257:1730–1733

    Article  PubMed  Google Scholar 

  4. Schüller A, Wenninger S, Strigl-Pill N, Schoser B (2012) Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 160:80–88

    Article  Google Scholar 

  5. Van der Ploeg AT, Clemens PR, Corzo D et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362:1396–1406

    Article  PubMed  Google Scholar 

  6. Caplan LR (2005) Dilatative arteriopathy (dolichoectasia): what is known and not known. Ann Neurol 57:469–471

    Article  PubMed  Google Scholar 

  7. Kretzschmar HA, Wagner H, Hübner G et al (1990) Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency. J Neurol Sci 98:169–183

    Article  CAS  PubMed  Google Scholar 

  8. Hobson-Webb LD, Proia AD, Thurberg BL et al (2012) Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab 106:462–469

    Article  CAS  PubMed  Google Scholar 

  9. Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG (2005) Mutations in the acid alpha-glucosidase gene in a patient with an unusual phenotype. Neurology 64:368–370

    Article  CAS  PubMed  Google Scholar 

Download references

Conflicts of interest

None.

Ethical standards

All patients and controls provided written informed consent and the local ethics committee approved the study which has been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Véronique Quenardelle.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Quenardelle, V., Bataillard, M., Bazin, D. et al. Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts. J Neurol 262, 473–475 (2015). https://doi.org/10.1007/s00415-014-7582-6

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-014-7582-6

Keywords

Navigation